@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_head {
  this: np:hasAssertion dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_assertion;
    np:hasProvenance dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_provenance;
    np:hasPublicationInfo dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_assertion a np:Assertion .
  
  dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_provenance a np:Provenance .
  
  dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_assertion {
  miriam-gene:3342 a ncit:C16612 .
  
  lld:C0026106 a ncit:C7057 .
  
  dgn-gda:DGNa7edd640924491a349f64914a0a6f80c sio:SIO_000628 miriam-gene:3342, lld:C0026106;
    a sio:SIO_001121 .
}

dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_provenance {
  dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_assertion dcterms:description
      "[Given the overlap of the deletions in our two patients with the large-sized NF1 microdeletions but not with the more frequent and smaller NF1 deletions, we hypothesize that more than one gene in the 17q11.2q12 region may be involved in MR. We discuss candidate genes for MR within this interval that was precisely defined through array-CGH analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
    sio:SIO_000772 miriam-pubmed:17916097;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date .
  
  dgn-void:source_evidence_literature a eco:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP712878.RAQ0grvcweFL5P8r02w4VDWQvXy8rq9mGnw2OAdl0sxVM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:13+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}